Variant report

Variant	rs146770391
Chromosome Location	chr11:66058469-66058470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
2	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:66055102-66058883	HepG2	liver:	n/a	n/a
4	HCFC1	chr11:66054469-66058486	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:
2	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
3	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
4	chr11:66055397..66059696-chr11:66135983..66139913,5	K562	blood:
5	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:
6	chr11:66056386..66058686-chr11:66082623..66084625,3	MCF-7	breast:
7	chr11:66056885..66058669-chr11:66106452..66107991,2	K562	blood:

No data

Variant related genes	Relation type
TMEM151A	TF binding region
YIF1A	TF binding region
ENSG00000174903	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174744	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
14	esv3407698	chr11:66058401-66060949	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66056000-66061800	Active TSS	Brain Angular Gyrus	brain
2	chr11:66057000-66058800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr11:66057200-66058800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:66057400-66059000	Weak transcription	Aorta	Aorta
5	chr11:66057600-66058600	Enhancers	Fetal Intestine Large	intestine
6	chr11:66057600-66058600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr11:66057600-66058800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:66057600-66058800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:66057600-66058800	Enhancers	Gastric	stomach
10	chr11:66057600-66059000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:66057600-66059000	Enhancers	Right Ventricle	heart
12	chr11:66057800-66058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:66057800-66059000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr11:66057800-66059000	Bivalent Enhancer	Fetal Intestine Small	intestine
15	chr11:66057800-66059000	Weak transcription	Lung	lung
16	chr11:66057800-66059200	Weak transcription	Ovary	ovary
17	chr11:66058000-66058800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:66058000-66059000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:66058000-66059000	Weak transcription	Esophagus	oesophagus
20	chr11:66058000-66059000	Weak transcription	Left Ventricle	heart
21	chr11:66058000-66059000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:66058000-66059000	Weak transcription	Right Atrium	heart
23	chr11:66058200-66058600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:66058200-66058600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:66058200-66058600	Weak transcription	Pancreas	Pancrea
26	chr11:66058200-66058600	Weak transcription	A549	lung
27	chr11:66058200-66058800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr11:66058200-66058800	Bivalent Enhancer	HepG2	liver
29	chr11:66058200-66059400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:66058400-66058600	Active TSS	Brain Anterior Caudate	brain
31	chr11:66058400-66058600	Active TSS	Brain Cingulate Gyrus	brain
32	chr11:66058400-66058800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:66058400-66058800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:66058400-66058800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:66058400-66058800	Active TSS	Brain Hippocampus Middle	brain
36	chr11:66058400-66059200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:66058400-66059400	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr11:66058400-66059800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:66058400-66060200	Active TSS	Brain Substantia Nigra	brain
40	chr11:66058400-66060400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr11:66058400-66060600	Weak transcription	Hela-S3	cervix

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